Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.G199S
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ACTC1

NM_005159.5:p.G199S

Associated Papers

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Zarate YA et al.

Clinical Genetics, 2025

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Hgg Advances, 2023

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.

Glyakina AV et al.

Biophysical Reviews, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."